PROF David Thorburn

PROF David Thorburn


  • Genetic research, inherited diseases, personalised medicine (mitochondrial disorders)



  • Current appointments:
    Director, Genetics Theme, Murdoch Childrens Research Institute 
    NHMRC Principal Research Fellow
    Head, Mitochondrial Research Group, MCRI
    Head, Mitochondrial Diagnostic Laboratory, VCGS Pathology
    Honorary Fellow, Victorian Clinical Genetics Services
    Honorary Professorial Fellow, Department of Paediatrics, University of Melbounre




Member of

  • Scientific Advisory Board, FinMIT (Academy of Finland Centre of Excellence). Chair 2007 - 2012
  • Scientific Advisory Board, United Mitochondiral Disease Foundation. Member 2001 - 2006


Selected publications


Investigator on

Additional Grant Information

  • Current
    2012-2016 NHMRC Principal Research Fellowship 1022896 to DR Thorburn

    2012-2014 NHMRC Project Grant 1023619 to DR Thorburn, AG Compton, SE Calvo & MT Ryan
    “Transforming The Diagnosis Of Mitochondrial Disorders Using High-Throughput Sequencing, Functional Prediction And Experimental Validation” 

    2012-2014 NHMRC Project Grant 1022222: DR Thorburn, J St.John, A Frazier, D Nisbet, S White
    “Understanding The Pathogenesis Of Mitochondrial Disease Using Ips Cells” 

    2012-2014 NHMRC Project Grant 1027813: S Pepe, DR Thorburn, J Smolich & R Gottlieb
    “NDI1 Therapy for NADH-Ubiquinone Oxidoreductase Deficiency”



Education and training

  • PhD, University of Sydney 1987
  • BSc, University of Sydney 1983

Awards and honors

  • David Danks Oration, University of Melbourne, 2012
  • Sutherland Lecturer, Human Genetics Society of Australasia, 2007
  • Fulbright Postdoctoral Fellow, 1987



Available for supervision

  • Y

Supervision Statement

  • I supervise BSc(Hons), MSc and PhD students on projects using genomic technologies to identify novel genes causing mitochondrial energy generation disorders or studying cellular and mouse models of mitochondrial disease. 
    Recent PhD students from my lab have won awards such as a Dean's Award for Excellence in a PhD thesis, a Commendation for the Victorian Premier’s Award for Health & Medical Research, a Victorian Tall Poppy (Science) Award and an NHMRC Peter Doherty Fellowship.